| 庄文辉,徐志鹏,王华.NLRP3基因 rs1539019位点多态性与儿童支气管哮喘易感性及糖皮质激素疗效的关系[J].安徽医药,2025,29(10):2062-2066. |
| NLRP3基因 rs1539019位点多态性与儿童支气管哮喘易感性及糖皮质激素疗效的关系 |
| Association of rs1539019 polymorphism of NLRP3 gene with susceptibility to bronchial asthma and glucocorticoid therapy in children |
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| DOI：10.3969/j.issn.1009-6469.2025.10.030 |
| 中文关键词: 哮喘 易感性 儿童 NLRP3基因 基因多态性 糖皮质激素 |
| 英文关键词: Asthma Susceptibility Children NLRP3 gene Gene polymorphism Glucocorticoid |
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| 中文摘要: |
| 目的核苷酸结合寡聚化结构域样受体蛋白 3(NLRP3)基因 rs1539019位点多态性与儿童支气管哮喘易感性及糖皮质激素( GC)疗效的关系。方法选取 2020年 1月至 2022年 6月在海口市第三人民医院接受 GC雾化吸入治疗的儿童支气管哮喘病儿 206例为哮喘组，健康儿童 150例为健康组。采用 PCR技术检测两组 NLRP3基因 rs1539019位点的基因型和 NLRP3 mRNA表达量，分析两组基因型分布差异性；比较观察组不同基因型病儿治疗前后 NLRP3 mRNA、白三烯 B4(LTB4)及免疫球蛋白 E(IgE)水平，肺功能指标差异及临床疗效差异。结果哮喘组 CC基因型( 42.2%)及 C等位基因频率( 56.8%)均明显高于健康组( 20.7%、37.7%)(P<0.05)NLRP3基因 rs1539019位点 CC基因型［OR=2.86，95%CI:(2.16，9.71)］和 C等位基因［OR=3.43，95%CI:(2.89，12.15)］与儿喘发病风险有关( P<0.05)。治疗后， 3种基因型病儿 NLRP3 mRNA、LTB4及 IgE水平均明显低于治疗前( P<0.05)，CC基因型病儿治疗后 NLRP3 mRNA及 LTB4水平明显低于 AA和 AC基因型( P<0.05)。治疗后， 3种基因型病儿 FEV1FVC及 FEV1/FVC均明显高于治疗前(P<0.05)CC基因型病儿治疗后 FVC及 FEV1/FVC明显高于 AA和 AC基童哮，因型(P<0.05)。NLR、P3基因 rs1539019位点 CC基因型病儿控制良，好比例明显高于 AA基因型，且 GC对 CC基因型病儿治疗效果良好是 AA基因型的 2.350倍。结论 NLRP3基因 rs1539019位点多态性与儿童支气管哮喘易感性有关，携带 CC基因型儿童支气管哮喘发病风险较高， GC对 CC基因型病儿的疗效较好。 |
| 英文摘要: |
| Objective To explore the relationship between rs1539019 polymorphism of nucleotide-binding oligomerization domain-like receptor protein 3 (NLRP3) gene and susceptibility to bronchial asthma and the efficacy of glucocorticoid (GC) in children.Meth. ods A total of 206 children with bronchial asthma who received GC nebulization inhalation treatment at the Third People's Hospitalof Haikou from January 2020 to June 2022 were selected as the asthma group and 150 healthy children as the control group. Poly-merase chain reaction (PCR) was used to detect the NLRP3 gene rs1539019 genotype and NLRP3 mRNA expression levels in the twogroups, and the differences of genotype distribution between the two groups were analyzed. The levels of NLRP3 mRNA, leukotriene B4(LTB4) and immunoglobulin E (IgE), lung function indexes and clinical efficacy of the children with different genotypes were comparedbefore and after treatment. Results The frequency of CC genotype (42.2%) and C allele (56.8%) in asthma group was significantlyhigher than that in control group (20.7%, 37.7%) (P < 0.05). The CC genotype [OR=2.86, 95%CI: (2.16, 9.71)] and C allele [OR=3.43, 95%CI: (2.89, 12.15)] at rs1539019 site of NLRP3 gene were associated with the risk of asthma in children (P < 0.05). After treatment,the levels of NLRP3 mRNA, LTB4 and IgE in children with three genotypes were significantly lower than those before treatment (P < 0.05), and the levels of NLRP3 mRNA and LTB4 in children with CC genotype were significantly lower than those in children with AAand AC genotypes (P < 0.05). After treatment, forced expiratory volume in one second (FEV1), forced vital capacity (FVC) and FEV1/FVC in children with three genotypes were significantly higher than those before treatment (P < 0.05), and FVC and FEV1/FVC in chil-dren with CC genotype were significantly higher than those in children with AA and AC genotypes (P < 0.05). The proportion of chil-dren with CC genotype at rs1539019 locus of NLRP3 gene was significantly higher than that with AA genotype, and the therapeutic ef-fect of GC on children with CC genotype was 2.350 times that of those with AA genotype.Conclusions The rs1539019 polymorphismof NLRP3 gene is associated with the susceptibility of bronchial asthma in children. Children with CC genotype have a higher risk ofbronchial asthma, and GC has a better effect on children with CC genotype. |
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